Smith–Lemli–Opitz syndrome

（重定向自Smith Lemli Opitz Syndrome）

Reaction scheme of squalene giving lanosterol.

Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase, or DHCR7. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.

单词	Smith Lemli Opitz Syndrome
释义	Smith Lemli Opitz Syndrome 英语百科 Smith–Lemli–Opitz syndrome （重定向自Smith Lemli Opitz Syndrome） Smith–Lemli–Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase, or DHCR7. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.
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